tbuckley/cabot-search huggingface dataset:
PB1994: COMPARISON OF PATIENTS WITH MYELODYSPLASTIC SYNDROMES WITH HIGH AND LOW OGATA SCORE VALUES ON CYTOMETRY IN RELATION TO THE PRESENCE OF CYTOGENETIC ABNORMALITIES - A PRELIMINARY STUDY
Authors: Krzysztof Gawronski, Elżbieta Rutkowska, Iwona Kwiecień, Katarzyna Kulik, Alicja Dudzik, Agata Zakrzewska, Piotr Rzepecki
Journal: HemaSphere (2023)

Topic: 9. Myelodysplastic syndromes - Biology & Translational Research Background: Myelodysplastic syndrome (MDS) is a group of diseases with abnormal and inadequate hematopoiesis. In MDS, we encounter single-, double- or triple-lineage cytopenia. In order to assess prognosis, the presence of poor prognostic cytogenetic abnormalities is taken into account, among other things. Thus, it is very important to select patients with an increased risk of an unfavorable course of the disease as soon as possible. Aims: The aim of the study was to compare patients with MDS who had low and high Ogata values. The Ogata score parameter with the presence or absence of any cytogenetic abnormalities in the bone marrow were evaluated. Methods: Bone marrow from 40 patients with MDS and positive Ogata score, including 17 patients with positive cytogenetic abnormality were examined. Cytogenetic studies and molecular evaluation of genetic abnormalities were performed using classical cytogenetics, FISH method and PCR reaction. The Ogata scores were analyzed using the multicolor flow cytometry method and referred to a specific cytometric algorithm. Results: In our study, we observed that patients with a high Ogata value also revealed cytogenetic abnormalities. In patients with a low Ogata value, we did not observe cytogenetic disorders. In patients with a high Ogata score value > 3 points we have shown cytogenetic changes. We didn’t observe cytogenetic abnormalities in any patients with Ogata score 0 point (p < 0.005). Summary/Conclusion: Our study confirmed that Ogata score, as a well-known flow cytometry algorithm developed for analyzing cells in patients with MDS, could be helpful in the diagnosis and risk stratification of MDS. Ogata score analysis identify patients with cytogenetic abnormalities and indicate high-risk patients. On this basis, in countries or centers around the world where there is less opportunity for cost-saving reasons to perform cytogenetic testing, high-risk patients in whom we suspect we may find cytogenetic abnormalities can be selected based on the Ogata score. The conclusions of our work could be of practical benefit in the daily work of a hematologist. The study is being further continued at our center. Keywords: MDS
PB2520: NEWBORN SCREENING PROGRAM IN SAUDI ARABIA FOR EARLY DETECTION OF HEMOGLOBINOPATHIES AND G6PD
Authors: Hatoon Ezzat, Ohoud Kashari, Areej M Alghamdi, Mansour Aljabry, Meshal M. Alshehri, Hanadi J Alamri, Ahmed Al Barraq, Mohammed K. Alabdulaali
Journal: HemaSphere (2023)

Topic: 26. Sickle cell disease Background: Hemoglobinopathies and G6PD are one of the most common genetic disorders in Saudi Arabia (Hamamy and Al-Allawi, 2013). Performing newborn screening (NBS) can facilitate timely diagnosis, and initiation the treatment to prevent complication like early starting of penicillin prophylaxis in sickle cell disease. This further permits the establishment of comprehensive care for screen-positive babies. NBS enables the parents to be informed about their child’s disorder and the necessary preventive methods for each specific disease (Padilla et al., 2021). The main objective of NBS programs is the identification of significant hemoglobinopathies and glucose-6-phosphate dehydrogenase (G6PD) deficiency in newborns. Aims: To identify newborn babies for the presence of hemoglobin F, A, S, D, C, and E and glucose-6-phosphate dehydrogenase (G6PD) deficiency and follow up. Methods: This study was conducted at Al-Ahsa Health Cluster, Saudi Arabia. The review considered a neonatal screening pathway (Figure (1)). Figure (1): Neonatal screening process for inherited blood disease Blood samples were collected from newborns on filter paper by high-performance liquid chromatography (HPLC). Dried blood spots were collected by heel prick test between 24-72 hours of age or prior to discharge from the hospital and sent to a laboratory within 24–72 hours after collection. A Additional newborn screening specimen was submitted 90-120 days from the date of transfusion for infants transfused before the screening. Testing was performed within 72 hours, typically on the same day the specimen was received in the laboratory. Results: NBS involved testing of 5715 specimens by the end of December 2022, of which 1468 (25.7%) were positive. The observations of the results determined the following: Presence of G6PD in 505 (8.8%), sickle cell trait (SCT) in 811 (14.2%), G6PD & sickle cell trait in 102 (1.8%), G6PD & E-trait in 2 (0.04%), sickle cell anemia HbSS/Sβ0 Thal in 25 (0.45%), sickle cell β+ Thal in 2 (0.04%), E-trait in 5 (0.10%), Hb D-Punjab trait High A2/E in 1 (0.02%). Further sickle cell disease (HbSC) was not detected. The results are illustrated in Figure (2).Figure (2): Results of newborn screening for inherited blood disorders conducted at AlAhsa Health Cluster, Saudi Arabia Summary/Conclusion: NBS for inherited blood disorders proved to be a significant healthcare approach for timely diagnosis and intervention facilitating the establishment of comprehensive care, thus decreasing morbidity and mortality, especially in areas with high prevalence of hemoglobinopathies. Keywords: Sickle cell disease, beta thalassemia, Hemoglobinopathy
PB2573: MICRORNA CLUSTERS FACILITATE THE PREDICTION OF INFECTIOUS FEVER AFTER HEMATOPOIETIC STEM CELL TRANSPLANTATION
Authors: LI Liu, Xiaolei Pei, Sizhou Feng
Journal: HemaSphere (2023)

Topic: 30. Infections in hematology (incl. supportive care/therapy) Background: Infectious fever is a common problem with high morbidity post hematopoietic stem cell transplantation (HSCT). Aims: To identify microRNAs related to infectious diseases and clusters with values of prediction or diagnosis for infectious fever using machine learning algorithm. Methods: Totally, 345 serum and 56 bronchoalveolar lavage fluid (BALF) samples were collected and the infectious fever classifiers based on microRNA clusters are established. Results: MicroRNA clusters, including miR-155-5p, miR-4496, miR-183-5p, miR-99a-5p, miR-769-5p, miR-23a-5p, miR-22-5p and miR-9-5p, were calculated out to be the diagnosis markers by using the Random Forest (RF) and Support Vector Machine (SVM) algorithms, and the AUCs of the validating serum samples were 0.97 and 0.99 respectively. The highest prediction accuracy of the linear regression, random forest and SVM algorithms acquired a 20-30 microRNAs cluster. Through the time-pointed linear regression analysis of infectious fever, a cluster constituted with 31 microRNAs has the highest fit effect (R2=0.81) and distinguishes the infectious and noninfectious fever in untrained serum samples at 0-2 weeks ahead with an accuracy of 87%. Moreover, the correlation analysis of serum microRNAs and hematopoietic reconstitution or immune response identified the specific clusters corresponding to infections after HSCT. Summary/Conclusion: Overall, the combination of serum microRNAs and machine learning algorithms displayed a promising potential in the prediction and diagnosis of infectious fever after HSCT. Keywords: HSCT, Fever, Immune response, Infection
PB2172: PREVALENCE OF FIP1L1-PDGFRΑ FUSION IN TUNISIAN PATIENTS WITH HYPEREOSINOPHILIA
Authors: Nermine Torkhani, Amira Mansouri, Manel Kasdallah, Ines Safra, Samia Mnif
Journal: HemaSphere (2023)

Topic: 15. Myeloproliferative neoplasms - Biology & Translational Research Background: Hypereosinophilia (HE) is a heterogeneous disorder defined by a persistent high count of eosinophils, which can be seen in a variety of conditions with distinct pathophysiological pathways. HE may be associated with tissue or organ damage, and, in this case, the disorder is classified as hypereosinophilic syndrome (HES). Remarkable progress has been achieved to improve diagnosis, including the finding of a cryptic interstitial deletion on chromosome 4q12 resulting in a FIP1L1-PDGFRa fusion gene which predicts a favorable response to Tyrosine kinase Inhibitors (TKI). Aims: The aim of this study is to evaluate the prevalence of FIP1L1-PDGFRα fusion gene in patients with hypereosinophilia and to describe the epidemiological and clinical characteristics of the cohort. Methods: A retrospective descriptive observational study including all patients referred to the hematology laboratory of Pasteur Institute of Tunis over a 5-year period from January 2018 to December 2022. Included patients presented persistent eosinophilia superior to 0.5G/L. FIP1L1-PDGFRα rearrangement testing was performed on peripheral blood collected on EDTA, using nested RT-PCR. Demographic data, and biological parameters were collected. Results: 202 patients were included, the mean age was 48 years [4 months –95 years] with a sex ratio M/F= 1.17. 80.2% of patients had isolated hypereosinophilia, 19.8 % had additional organ damages. The most affected organs were digestive (21%), dermatological (10.7%) multisystemic (7.1%) venous thrombosis (7%),cardiovascular (3.6%) and pulmonary (3.6%). Mean leucocytes count was 20.9 G/L [4.9-101.7], Mean eosinophilic count was 7.8 G/L [8-87]. 18.4% of patients had mild hypereosinophilia [0.5-1.5],43.2% had moderate hypereosinophilia [1.5-5] and 38.4% severe hypereosinophilia >=5G/L. FIP1L1-PDGFRA fusion gene was found in 8 patients, all males. The mean age of positive patients was 46.7 [25-77]. 80% FIP1L1-PDGFRα positive patients had severe hypereosinophilia. FIP1L1-PDGFRα positive patients were treated with imatinib 100mg/day with good response, 1 patient experienced disease relapse within 4 years, 1 patient has beneficed from treatment free remission after 5 years. Summary/Conclusion: The FIP1L1-PDGFRα rearrangement is rare among patients with hypereosinophilia, additional novel treatment options should be tested to improve the quality of life of patients. Keywords: FIP1L1-PDGFRA, Eosinophilia, Hypereosinophilic syndrome
PB1970: LONG-TERM RESULTS OF THERAPY FOR CHRONIC MYELOID LEUKEMIA: A 20-YEAR ANALYSIS OF THE GIPAP PROGRAM IN RUSSIA
Authors: Oleg Shukhov, Olga Vinogradova, Ekaterina Chelysheva, Anastasiya Bykova, Irina Nemchenko, Olga Lazareva, Anna Turkina
Journal: HemaSphere (2023)

Topic: 8. Chronic myeloid leukemia - Clinical Background: In Russia, within the framework of the GIPAP program in the period from 2001 to imatinib therapy was initiated in 235 patients in the chronic phase of chronic myelogenous leukemia (CML). Currently, this group of patients has the longest follow-up period after the start of treatment with imatinib and is of interest in terms of studying long-term results of survival and the effects of therapy with tyrosine kinase inhibitors (TKIs). Aims: to analyze the long-term results of therapy in patients with CML who started imatinib therapy as part of the GIPAP program in the period from 2001 to 2007 Methods: We performed a retrospective analysis of the results of therapy in 235 patients with chronic phase CML, who received imatinib under the GIPAP program from 2001 to 2007. The protocols for therapy and monitoring of the residual disease of patients at various time intervals were determined by the clinical recommendations relevant at that time in the conditions of real clinical practice. Overall survival was analyzed using the Kaplan-Meier method. The cumulative incidence of responses was calculated by «intention-to-treat» principle. The probability of CML-related and CML-unrelated death and cumulative incidence of responses was carried out by cumulative incidence function. Results: The median follow-up for alive patients at the time of analysis was 17.3 years (interquartile range (IQR) 15.5–18.5). Seventy (30%) patients died, the median time to death from the start of therapy was 7.8 years (IQR 3.7-13.6). The overall 10-year, 15-year and 20-year survival rates were 82%, 74% and 62%. The cause of death in 43 cases (61%) was CML-related death, 27 (39%) patients died from death unrelated to CML. The 20-year probability of CML-related and CML-unrelated death was 27% and 18%, respectively. The median duration of imatinib therapy was 11.4 years (0.8-21 years). Ninety two (39%) patients received at least one second-generation TKI (2nd TKI), three or more TKIs were prescribed to 43 (18%) patients. The median duration of therapy after switching to 2nd TKI was 7.8 years (0.1-15.6 years). Overall 15-year survival since switching to 2nd TKI was 59%. The 10-year and 20-year cumulative incidences of CCyR, MMR and MR4 were 79%, 63%, 56% and 81%, 73%, 69%, respectively. Summary/Conclusion: After 20 years of monitoring patients on TKI therapy, we still cannot say that survival in CML is comparable to the survival of normal populationKeywords: Chronic myeloid leukemia, Imatinib, Long-term follow-up
PB2540: HEPATIC SAFETY PROFILE OF DEFERASIROX IN CHILDREN WITH BETA THALASSEMIA MAJOR IN OMAN
Authors: Shaimaa Almadhani, Abeer Al Riyami, Surekha Tony, Abdul Hakim Al Rawas, Yasser Wali
Journal: HemaSphere (2023)

Topic: 27. Thalassemias Background: Homozygous Beta thalassemia is characterized by absent or reduced synthesis of the beta globin subunit of hemoglobin molecule. Phenotypically, it can be classified as transfusion or non-transfusion dependent (TDT/TDT). TDT Patients present with severe anemia early in life and remain transfusion dependent. The resulting iron overload with iron deposition in the reticuloendothelial system, liver, endocrine tissues and myocardium requires intensive iron chelation therapy. There are 3 available iron chelating agents; deferoxamine, deferasirox and deferiprone. In pediatric age group the most commonly used are the oral iron chelators. Deferasirox is generally well tolerated, however, it has known side effects of renal toxicity, gastrointestinal disturbances and rash. There are increasing reports of hepatotoxicity, including a serious chronic liver disease. Aims: The current work aims to study the hepatic side effects of deferasirox in pediatric patients with TDTs and their outcome. Methods: A retrospective descriptive cohort study that involves tracing the records of all children less the 18 years old who were diagnosed with TDT and followed in Sultan Qaboos University Hospital, Muscat, Oman from 2006-2020. Results: Eighty-three patients were recruited. The median age of initiation of DFX was 5 years (ranged from 2 to 12 years). The most common reasons for discontinuation of DFX were inadequate response with elevation of serum ferritin (52.8%)and renal toxicity (17%). Only 2 patients had to discontinue DFX due to a serious increase in ALT that reached above 800 U/L and shifted to deferiprone therapy. In all patients, the serum transaminases returned to normal values upon reduction of defersirox dose by 50%. All of them resumed the DFX treatment with no further serum transaminitis. Summary/Conclusion: Deferasirox can cause hepatic injury and rise in serum transaminases. It was transient and reversible with dose reduction or cessation of the drug. None of the patients developed acute hepatic failure, and only 2 had to shift to another iron chelator. Keywords: beta thalassemia
PB1965: INSIGHTS INTO RELAPSED AND REFRACTORY CHRONIC MYELOID LEUKEMIA: MOLECULAR-GENETIC, BIOCHEMICAL AND PROGNOSIS PATTERNS
Authors: Vasile Musteata
Journal: HemaSphere (2023)

Topic: 7. Chronic myeloid leukemia - Biology & Translational Research Background: Chronic myeloid leukemia (CML) encounters up to 20% of leukemia cases in adults and is characterized in the advanced phases by relapsing course and marked disease burden. The biological significance of LDH and T315I mutation constitute a challenging issue of researches axed on the development of therapeutic approach overcoming resistance to TKIs. Aims: The study objectives were to identify the biological evidence of lactate dehydrogenase (LDH), T315I and K222R/665A mutations and to assess their impact on treatment options and prognosis in the newly diagnosed and relapsed CML. Methods: Our observational, cohort and data-driven study enrolled 32 patients (pts) with different phases of CML, who were followed up and treated at the Institute of Oncology from Moldova between 1995 and 2022. Venous blood samples were collected for LDH assay and molecular screening for T315I and K222R/665A mutations of the BCR-ABL1 gene in order to evaluate the biological and prognosis significance of LDH values and mutational burden. CML pts underwent the 1st- and 2nd-line treatment with TKIs, conventional chemotherapy with alkylating agents and antimetabolites. The TKIs generation selection was performed according to hematological and molecular response. Results: The pts age ranged from 20 to 67 years (average 52.6±2,14). The diagnosis of CML was established in the late chronic phase in 30 (93.8%) pts. Real-time PCR revealed p210 transcript of BCR-ABL chimeric gene in all cases, with the range of 14-100% and median value of 74.63±3.19%. LDH at diagnosis varied between 169-2429 U/L and was increased in 20 (62.5%) pts, especially in those with leukocytosis over 100x109/l. Complete cytogenetic and deep molecular responses were recorded under treatment with different generations of TKIs in 23 (71.9%) cases, including 4 cases with T315I mutation. Relapses emerged in 11 (55.0%) pts with initially increased LDH values, in 6 (60%) pts with T315I mutation and in one case with K222R/665A mutation. One (3.7%) patient with the initially elevated LDH level and T315I mutation evolved into the acute phase, and achieved only the partial hematological response after the treatment with ponatinib. The pts survival from the disease onset ranged between 32 and 259 months (average 98.72±4.51). Conclusions: The elevated LDH values may indicate the activity of CML at diagnosis and in relapse. T315I and K222R/665A mutations and the increased LDH values were associated with a higher relapse rate and resistance to imatinib. Although ponatinib was developed as a potent TKI that can inhibit crucial kinase domain mutations, its activity against T315I mutation proved to be modestly decreased as compared with the activity against native BCR-ABL1 transcripts. Keywords: Chronic myeloid leukemia, Kinase inhibitor, relapsed/refractory, Mutation
PB2304: FIVE-YEAR SUBGROUP ANALYSIS OF TAFASITAMAB + LENALIDOMIDE FROM THE PHASE II L-MIND STUDY IN PATIENTS WITH RELAPSED OR REFRACTORY DIFFUSE LARGE B-CELL LYMPHOMA
Authors: Johannes Duell, Pau Abrisqueta, Martin Dreyling, Gianluca Gaidano, Eva González Barca, Wojciech Jurczak, Anna Marina Liberati, Kami Maddocks, Tobias Menne, Zsolt Nagy, Olivier Tournilhac, Abhishek Bakuli, Aasim Amin, Konstantin Gurbanov, Gilles Salles
Journal: HemaSphere (2023)

Topic: 19. Aggressive Non-Hodgkin lymphoma - Clinical Background: The Phase II L-MIND study led to accelerated US approval and EU conditional authorization of the CD19-targeted immunotherapy, tafasitamab, + lenalidomide (LEN) followed by tafasitamab monotherapy for patients (pts) with relapsed or refractory (R/R) diffuse large B-cell lymphoma (DLBCL) ineligible for autologous stem cell transplant (ASCT). Long-term L-MIND data further support the regimen. Aims: Here we present exploratory analyses of final 5-year (yr) efficacy in subgroups of interest. Methods: Pts (≥18 years) with ASCT-ineligible R/R DLBCL, 1–3 prior systemic therapies (incl. ≥1 targeting CD20) and ECOG PS 0–2 received tafasitamab for ≤12 28-day cycles (+ LEN), then alone until disease progression. Primary endpoint was objective response rate (ORR). Secondary endpoints included duration of response (DoR), progression-free survival (PFS) and overall survival (OS). Exploratory subgroup analyses including by International Prognostic Index (IPI) and time to progression after 1L (in pts with only 1 prior line) used Kaplan-Meier estimates of 5-yr endpoints. Results: As of 14 Nov, 2022 in the full analysis set (FAS; n=80), ORR was 56.2% [95% CI: 44.7–67.3]. Median treatment duration was 9.0 months (mo) [0.5–73.6] and median follow-up (mFU) for OS was 65.6 mo [59.9–70.3]). Median DoR was not reached (mFU: 43.7 mo [29.9–58.4]). Of 18 patients in follow-up for ≥5 years, 9 received tafasitamab until end of study per protocol, 9 discontinued while in remission. RR and 5-yr rates for DoR, PFS and OS showed long-term clinical activity in all pt subgroups (Table). Summary/Conclusion: In this 5-yr subgroup analysis, long-term clinical benefit with tafasitamab + LEN followed by tafasitamab monotherapy was observed in all subgroups of clinical interest, including pts with poor prognosis risk factors. These data suggest this immunotherapy may have curative potential, and is being explored in further studies.© 2023 American Society of Clinical Oncology, Inc. Reused with permission. This abstract was accepted and previously presented at the 2023 ASCO Annual Meeting. All rights reserved. Keywords: Diffuse large B cell lymphoma, DLBCL
PB2359: SYNCHRONOUS SOLID TUMORS IN PATIENTS WITH HEMATOLOGICAL MALIGNANCIES: EXPERIENCE IN A PUBLIC HEALTHY SYSTEM IN BRAZIL.
Authors: Larissa Teixeira, Nelson Hamerschlak, Perini Guilherme, Carolina Feres, Oliveira Thais, Carolina Pereira
Journal: HemaSphere (2023)

Topic: 19. Aggressive Non-Hodgkin lymphoma - Clinical Background: Synchronous multiple neoplasm is an uncommon event and its occurrence of a hematological malignancy and a solid tumor is even less common. The diagnosis represents a challenge for clinicians, in terms of diagnosis and the best choice of approach. Aims: Describe ten cases of concomitant hematologic malignancy and solid tumor. Methods: We analyzed 10 patients with a synchronous hematologic malignancy and solid tumor from February 2019 to January 2023. The definition of synchronous cases was when the second malignancy arose within six months of the diagnosis of the first malignancy. Results: During the period, 643 patients were diagnosed with hematological malignance, of which 10 had synchronic solid tumor. Patients and disease chacacteristics are shown in Table 1. The majority were female (70%) and their ages ranged from 48 to 75 years. In three cases, the diagnosis of the two neoplasm was made simultaneously. The median interval of diagnosis was 79 days. Regarding hematologic malignancy, diffuse large B-cell lymphoma was the most common (40%) and gastric (30%) and colon (30%) adenocarcinoma were the most prevalent concomitant solid tumor. All patients had a complete response of the hematological malignancy. Two patients (20%) died and solid tumor was the cause of death in both. Summary/Conclusion: Although infrequent, clinicians and pathologists should be aware of the possibility of synchronic tumors to avoid inaccurate or delayed diagnosis and staging. There is no standard approach for synchronous hematological malignancies and solid tumors. Treatment always should be discussed with multidisciplinary team, considering features of the patient’s disease and functional status. - Case Age Gender Solid Tumor Hematological Malignance Interval (Days) Death Diagnosis Treatment Diagnosis Treatment 1 51 M Calon adenocarcinoma Surgery DLBCL ImunoQT (R-CHOP) 12 No 2 69 F Gastric adenocarcinoma Surgery DLBCL ImunoQT (R-CHOP) 151 Yes 3 57 F Endometrial Neoplasia Surgery Plasmablastic Lymphoma QT (DA-EPOCH) 106 Yes 4 66 1 Colorectar carcinoma in situ Surgery Multiple Myeloma QT (VCD) + RT antiálgica + TMOa 79 No 5 75 F Gastric adenocarcinoma Surgery + Adjuvant CT (FOLFOX) SPB with minimal bone marrow involvement RT 107 No 6 58 F Lung adenocarcinoma Surgery + Adjuvant CT (CDDP + Pemetrexede) HL QT (ABVD) 63 No 7 60 F Renal Cell Carcinoma Surgery Multiple Myeloma QT (VCD) + RT 34 No 8 48 F Gastric adenocarcinoma CT DLBCL ImunoQT (R-CHOP) 0 No 9 54 F Invasive breast carcinoma Surgery DLBCL ImunoQT (R-CHOP) 0 No 10 64 M Sigmoid Adenocarcinoma Surgery FL WW 0 No Keywords: Multiple myeloma, Non-Hodgkin’s lymphoma, Hodgkin’s lymphoma